Collection of Human Biospecimens for Basic and Clinical Research Into Globin Variants

Inclusion criteria

• Aged 18-70 years.
• Able to provide informed consent.
• Willing to allow biological samples to be stored for future research.
• Willing to provide one or more of the following tissues: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL samples.
• Willing to allow genetic testing on collected biological samples.
• PARTICIPANT

Exclusion criteria

• Exclusion Criteria for All Participants
• The following exclusion criteria apply to all participants who will provide any of the following samples in-person at the NIH CC: saliva, urine, blood, blood waste products, adipose tissue, bronchial brushing, and/or BAL samples:
• Pregnancy.
• Positive testing for hepatitis B virus, hepatitis C virus, or HIV (as determined by serum screening tests or relevant viral quantitative studies.)
• Any condition that requires active medical intervention or monitoring to avert serious danger to the individual s health or wellbeing.
• Any condition that, in the opinion of the PI, contraindicates participation in this study.
• Additional Exclusion Criteria for Individuals Giving Blood for Research
• \. Hemoglobin \< 10 g/dL for healthy female volunteers, \< 12 g/dL for healthy male volunteers, or \< 6 g/dL for participants with sickle cell disease or other chronic anemias.
• Additional Exclusion Criteria for Adipose Tissue Biopsy
• Individuals meeting any of the following criteria will be excluded from undergoing adipose tissue biopsy. If the participant no longer meets any of these criteria at a later time, then they will be allowed to undergo this procedure.
• Currently taking anticoagulation medication.
• Platelets \< 100,000/microL.
• History of keloid formation (or irregular fibrous tissue formed at the site of a scar or injury).
• History of adverse reactions to lidocaine or other local anesthetics.
• Any condition that, in the opinion of the PI, contraindicates this procedure.
• Use of aspirin (or acetylsalicylic acid) and nonsteroidal anti-inflammatory drugs (NSAIDs) are permitted.
• Additional Exclusion Criteria for Bronchoscopy
• Individuals meeting any of the following criteria will be excluded from undergoing bronchoscopy. If the participant no longer meets any of these criteria at a later time, then they will be allowed to undergo this procedure.
• Prothrombin time (PT) \> 1 second above the upper limit of normal (ULN) or international normalized ratio \> 1.3.
• Partial thromboplastin time (PTT) \> 1 second above ULN.
• Platelets \< 150,000/microL.
• Currently taking anticoagulation medication.
• Use of aspirin within 2 weeks of the bronchoscopy or NSAIDs within 2 days of the bronchoscopy.
• Diagnosis of a pulmonary disorder (eg, asthma, chronic bronchitis, cystic fibrosis, or bronchiectasis).
• Respiratory tract infection within the last 4 weeks.
• History of adverse reactions to systemic and/or local anesthetics that will be used for this procedure.
• History of cigarette smoking within the past 3 months.
• History of chronic opioid use.
• History of drug or alcohol abuse.
• Post-bronchodilator forced expiratory volume in 1 second (FEV1) \< 40% of predicted or pre-bronchodilator FEV1 \< 35% of predicted.
• Active bronchospasm on physical examination.
• History of lidocaine allergy.
• Any condition that, in the opinion of the PI, contraindicates this procedure.
• Co-enrollment guidelines: Participants may be co-enrolled in other studies. However, the PI must be notified of co-enrollment.